Variant report

Variant	esv3414867
Chromosome Location	chr4:148703352-148707250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:148703385-148703766	GM12878	blood:	n/a	chr4:148703567-148703578 chr4:148703568-148703578 chr4:148703572-148703582
2	BATF	chr4:148707131-148707513	GM12878	blood:	n/a	n/a
3	BATF	chr4:148707206-148707498	GM12878	blood:	n/a	n/a
4	BRCA1	chr4:148707122-148707169	H1-hESC	embryonic stem cell:	n/a	n/a
5	CBX3	chr4:148703020-148703809	HCT-116	colon:	n/a	n/a
6	CUX1	chr4:148706938-148707570	GM12878	blood:	n/a	n/a
7	CUX1	chr4:148703553-148703603	GM12878	blood:	n/a	n/a
8	ELK1	chr4:148706755-148706782	GM12878	blood:	n/a	n/a
9	ELK1	chr4:148703430-148703497	GM12878	blood:	n/a	n/a
10	EP300	chr4:148703620-148703719	GM12878	blood:	n/a	n/a
11	EP300	chr4:148707103-148707787	GM12878	blood:	n/a	chr4:148707452-148707462 chr4:148707324-148707333
12	EP300	chr4:148703176-148703683	SK-N-SH_RA	brain:	n/a	chr4:148703570-148703579 chr4:148703571-148703580
13	EP300	chr4:148703118-148703620	SK-N-SH_RA	brain:	n/a	chr4:148703570-148703579 chr4:148703571-148703580
14	FOS	chr4:148703236-148703882	MCF10A-Er-Src	breast:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703569-148703580 chr4:148703570-148703579
15	FOS	chr4:148702998-148703752	MCF10A-Er-Src	breast:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703569-148703580 chr4:148703570-148703579
16	FOS	chr4:148703216-148703784	MCF10A-Er-Src	breast:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703569-148703580 chr4:148703570-148703579
17	FOS	chr4:148703223-148703724	HUVEC	blood vessel:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703569-148703580 chr4:148703570-148703579
18	FOS	chr4:148703333-148703751	MCF10A-Er-Src	breast:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703569-148703580 chr4:148703570-148703579
19	FOSL1	chr4:148703007-148704041	HCT-116	colon:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703570-148703579
20	FOSL1	chr4:148703094-148703768	HCT-116	colon:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703570-148703579
21	FOXP2	chr4:148703389-148703774	SK-N-MC	brain:	n/a	n/a
22	IKZF1	chr4:148707082-148707541	GM12878	blood:	n/a	n/a
23	JUND	chr4:148703148-148703815	SK-N-SH	brain:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703570-148703579
24	JUND	chr4:148703103-148703896	HCT-116	colon:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703570-148703579
25	JUND	chr4:148703083-148704017	SK-N-SH	brain:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703570-148703579
26	JUND	chr4:148703077-148703784	HCT-116	colon:	n/a	chr4:148703571-148703579 chr4:148703572-148703579 chr4:148703571-148703580 chr4:148703570-148703579
27	KAP1	chr4:148703115-148703757	U2OS	brain:	n/a	chr4:148703572-148703581
28	KAP1	chr4:148703034-148703848	HEK293	kidney:	n/a	chr4:148703572-148703581
29	MAFK	chr4:148703195-148703745	IMR90	lung:	n/a	n/a
30	MAX	chr4:148703096-148703836	HCT-116	colon:	n/a	chr4:148703571-148703580
31	MXI1	chr4:148703344-148703544	GM12878	blood:	n/a	n/a
32	MYC	chr4:148703335-148703536	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr4:148703326-148703523	MCF10A-Er-Src	breast:	n/a	n/a
34	NR3C1	chr4:148703727-148703986	ECC-1	luminal epithelium:	n/a	chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703843-148703857 chr4:148703842-148703858 chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703842-148703858 chr4:148703837-148703863
35	NR3C1	chr4:148703676-148703940	A549	lung:	n/a	chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703843-148703857 chr4:148703842-148703858 chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703842-148703858 chr4:148703837-148703863
36	NR3C1	chr4:148703614-148703998	A549	lung:	n/a	chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703843-148703857 chr4:148703842-148703858 chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703842-148703858 chr4:148703837-148703863
37	NR3C1	chr4:148703701-148703909	A549	lung:	n/a	chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703843-148703857 chr4:148703842-148703858 chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703842-148703858 chr4:148703837-148703863
38	NR3C1	chr4:148703769-148703933	ECC-1	luminal epithelium:	n/a	chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703843-148703857 chr4:148703842-148703858 chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703842-148703858 chr4:148703837-148703863
39	NR3C1	chr4:148703544-148703991	A549	lung:	n/a	chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703837-148703863 chr4:148703843-148703857 chr4:148703842-148703858 chr4:148703842-148703858 chr4:148703837-148703863 chr4:148703842-148703858 chr4:148703837-148703863
40	NRF1	chr4:148706254-148706268	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr4:148703349-148703370	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr4:148703015-148703858	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr4:148703247-148703609	GM12878	blood:	n/a	n/a
44	POLR2A	chr4:148706524-148706827	H1-neurons	neurons:	n/a	n/a
45	RAD21	chr4:148703553-148703853	SK-N-SH_RA	brain:	n/a	n/a
46	RAD21	chr4:148703184-148703480	SK-N-SH_RA	brain:	n/a	n/a
47	RUNX3	chr4:148703128-148703718	GM12878	blood:	n/a	n/a
48	RUNX3	chr4:148707113-148707478	GM12878	blood:	n/a	n/a
49	SP1	chr4:148702990-148704011	HCT-116	colon:	n/a	n/a
50	SRF	chr4:148707175-148707464	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:148706652..148708945-chr4:148723113..148725039,2	MCF-7	breast:
2	chr4:148702969..148703554-chr4:148758460..148759449,2	MCF-7	breast:
3	chr4:148702279..148704768-chr4:148706718..148708415,3	MCF-7	breast:
4	chr4:148698864..148701739-chr4:148701803..148703521,2	MCF-7	breast:
5	chr4:148706733..148708272-chr4:148709553..148712261,2	MCF-7	breast:
6	chr4:148652741..148654893-chr4:148705162..148708132,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4799-5p	chr4:148703755-148703776	MIMAT0019976
hsa-miR-4799-3p	chr4:148703790-148703811	MIMAT0019977

Variant related genes	Relation type
MIR4799	TF binding region
ENSG00000264274	chromatin interactions
ENSG00000071205	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565782358	chr4:148703356-148703357	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs75862873	chr4:148703431-148703432	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs182788496	chr4:148703508-148703509	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373275914	chr4:148703517-148703518	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs147635342	chr4:148703519-148703520	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs72955517	chr4:148703558-148703559	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556583753	chr4:148703609-148703610	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs576535830	chr4:148703629-148703630	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs544913632	chr4:148703630-148703631	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs142215827	chr4:148703640-148703641	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs555189456	chr4:148703688-148703689	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs565202702	chr4:148703723-148703724	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs72955519	chr4:148703770-148703771	Weak transcription Enhancers Flanking Active TSS	miRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541220182	chr4:148703772-148703773	Weak transcription Enhancers Flanking Active TSS	miRNA	n/a	Overlapped CNVs	n/a
15	rs145928453	chr4:148703785-148703786	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs117549994	chr4:148703838-148703839	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs550088277	chr4:148703847-148703848	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372945850	chr4:148703863-148703864	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs377209565	chr4:148703891-148703892	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370692702	chr4:148704017-148704018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187516025	chr4:148704077-148704078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191982032	chr4:148704115-148704116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551762090	chr4:148704149-148704150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535217989	chr4:148704152-148704153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184537889	chr4:148704244-148704245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28489636	chr4:148704275-148704276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12508085	chr4:148704296-148704297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548069899	chr4:148704305-148704306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190265517	chr4:148704315-148704316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72399544	chr4:148704328-148704329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57627764	chr4:148704332-148704333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28445432	chr4:148704338-148704339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560569973	chr4:148704454-148704455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28504565	chr4:148704460-148704461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528739455	chr4:148704464-148704465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193267275	chr4:148704469-148704470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577228155	chr4:148704602-148704603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28449211	chr4:148704633-148704634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28562228	chr4:148704635-148704636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538994628	chr4:148704637-148704638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547275810	chr4:148704650-148704651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2654957	chr4:148704668-148704669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2654956	chr4:148704670-148704671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28711870	chr4:148704684-148704685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189566626	chr4:148704689-148704690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376919621	chr4:148704705-148704706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561301626	chr4:148704709-148704710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574662448	chr4:148704711-148704712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2654955	chr4:148704719-148704720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371110144	chr4:148704740-148704741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148694800-148708400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:148695400-148707400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:148695600-148706400	Weak transcription	Fetal Stomach	stomach
4	chr4:148697000-148706400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:148698200-148708800	Weak transcription	Pancreas	Pancrea
6	chr4:148698800-148703400	Weak transcription	Stomach Mucosa	stomach
7	chr4:148698800-148703600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:148698800-148708400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:148699200-148703400	Weak transcription	Fetal Intestine Small	intestine
10	chr4:148699400-148708200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:148699800-148706600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:148700600-148703800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr4:148700800-148708000	Weak transcription	Right Ventricle	heart
14	chr4:148701600-148706400	Weak transcription	Thymus	Thymus
15	chr4:148701600-148706600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:148701800-148704000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:148701800-148716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:148702000-148703400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:148702000-148706400	Weak transcription	Fetal Thymus	thymus
20	chr4:148702000-148707200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:148702000-148707400	Weak transcription	Gastric	stomach
22	chr4:148702000-148707400	Weak transcription	Psoas Muscle	Psoas
23	chr4:148702000-148707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:148702000-148709600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:148702000-148710200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:148702000-148714600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:148702200-148703400	Weak transcription	Adipose Nuclei	Adipose
28	chr4:148702200-148703400	Weak transcription	Left Ventricle	heart
29	chr4:148702200-148703400	Weak transcription	HMEC	breast
30	chr4:148702200-148707000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:148702200-148707000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:148702200-148707400	Weak transcription	Aorta	Aorta
33	chr4:148702200-148707400	Weak transcription	Lung	lung
34	chr4:148702200-148707400	Weak transcription	Right Atrium	heart
35	chr4:148702400-148706400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:148702600-148706600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:148702800-148703400	Enhancers	NHEK	skin
38	chr4:148703000-148703400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:148703000-148703400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr4:148703000-148703400	Enhancers	HSMM	muscle
41	chr4:148703000-148703600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:148703000-148704000	Enhancers	HUVEC	blood vessel
43	chr4:148703200-148703400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:148703200-148703400	Enhancers	Spleen	Spleen
45	chr4:148703200-148703600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr4:148703200-148703600	Flanking Active TSS	GM12878-XiMat	blood
47	chr4:148703200-148703600	Enhancers	HSMMtube	muscle
48	chr4:148703200-148703800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:148703200-148703800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:148703200-148703800	Enhancers	Primary T helper cells PMA-I stimulated	--

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